GABA transaminase deficiency. Case report and literature review
Author:
Affiliation:
1. Department of Pediatrics Security Forces Hospital Riyadh Saudi Arabia
Publisher
Wiley
Subject
General Medicine
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1002/ccr3.3753
Reference8 articles.
1. Inherited disorders of gamma-aminobutyric acid metabolism and advances inALDH5A1mutation identification
2. Gamma-Aminobutyric Acid-Transaminase Deficiency: A Newly Recognized Inborn Error of Neurotransmitter Metabolism
3. 4-Aminobutyrate aminotransferase (GABA-transaminase) deficiency
4. Phenotype of GABA-transaminase deficiency
5. The GABA Transaminase, ABAT, Is Essential for Mitochondrial Nucleoside Metabolism
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2. Inherited Metabolic Disorders of Neurotransmitters;Reference Module in Neuroscience and Biobehavioral Psychology;2024
3. Computational Exploration of the Effects of Mutations on GABA Aminotransferase in GABA Aminotransferase Deficiency;International Journal of Molecular Sciences;2023-06-30
4. Gamma-Aminobutyric Acid Transaminase (GABA-T) Deficiency in a Consanguineous Saudi Family: A Case Report and Literature Review;Journal of Pediatric Epilepsy;2022-10-28
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